Identification of a novel mutation in the PHKA2 gene in a child with liver cirrhosis

Beyzaei Z., Ezgu F. S., Imanieh M. H., Geramizadeh B.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.35, sa.3, ss.417-420, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 3
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1515/jpem-2021-0385
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.417-420
  • Anahtar Kelimeler: glycogen storage disease type IX alpha 2, phosphorylase kinase, targeted gene sequencing, variant PHKA2, GLYCOGEN, VARIANTS
  • Gazi Üniversitesi Adresli: Evet

Özet

Objectives: Glycogen storage diseases (GSDs) are heterogeneous disorders caused by various enzyme deficiencies. GSD type IX alpha 2, the most common subtype of GSD IX, is due to a deficiency of hepatic phosphorylase kinase. Herein we will report a novel mutation in this disease with an unusual presentation.